ACHONDROPLASIA

Symptoms of Achondroplasia or dwarfism include long trunk but shortened legs and arms, with large prominent forehead. They may also have flattened nose bridge, crowded teeth, protruding jawline, bowed legs, curved spines and broad feet.

HOW IS ACHONDROPLASIA DIAGNOSED?

Achondroplasia can be diagnosed by the doctor by performing prenatal ultrasound and by observing the features of child. The doctor may recommend x-rays to calculate the length of the bones. A few blood tests may be required to evaluate any defective FGFR3 gene.

HOW IS ACHONDROPLASIA TREATED?

There is no known cure or precise treatment for Achondroplasia. Antibiotics are prescribed for any ear infections and surgery may be recommended for severe cases of spinal stenosis. Some growth hormones are used to increase the growth of the bones however their long term benefits have not been determined as yet.